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Joubert syndrome

Disease Summary
Associated Targets (40)
Tbio

34

Tdark

5

Tclin

1


Explore Associated Targets
Mondo Description Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
Disease Ontology Description A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
Mondo Term and Equivalent IDs
MONDO:0018772:  Joubert syndrome
GARD:0006802: 
NCIT:C74996: 
OMIMPS:213300: 
Orphanet:475: 
SCTID:716997004: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)